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Topic Review
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.
  • 935
  • 24 Dec 2020
Topic Review
Predicting Physical Appearance from DNA- Towards Genomic Solutions
The idea of forensic DNA intelligence is to extract from genomic data any information that can help guide the investigation. The advances in understanding the genetics of various human phenotypes, the progress in high-throughput genotyping technologies and machine-learning methods allow the prediction of physical appearance traits. In addition, the evolution of approaches to genetic prediction of physical traits from building predictive models based on variables showing genetic association to variables that improve prediction performance is presented.
  • 935
  • 29 Jan 2022
Topic Review
Meier-Gorlin Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature.
  • 934
  • 23 Dec 2020
Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 934
  • 24 Dec 2020
Topic Review
Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
  • 934
  • 24 Dec 2020
Topic Review
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis).
  • 934
  • 24 Dec 2020
Topic Review
Enlarged Parietal Foramina
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull.
  • 934
  • 25 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 934
  • 25 Dec 2020
Topic Review
TPI1 Gene
Triosephosphate isomerase 1: The TPI1 gene provides instructions for making an enzyme called triosephosphate isomerase 1.
  • 934
  • 25 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 933
  • 24 Dec 2020
Topic Review
RAF1 Gene
Raf-1 proto-oncogene, serine/threonine kinase
  • 932
  • 23 Dec 2020
Topic Review
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 932
  • 24 Dec 2020
Topic Review
Wilson Disease
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
  • 932
  • 24 Dec 2020
Topic Review
Capillary Malformation-Arteriovenous Malformation Syndrome
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 932
  • 24 Dec 2020
Topic Review
MSH2 Gene
mutS homolog 2
  • 931
  • 23 Dec 2020
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 931
  • 23 Dec 2020
Topic Review
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.
  • 931
  • 23 Dec 2020
Topic Review
BDNF Gene
brain derived neurotrophic factor
  • 931
  • 24 Dec 2020
Topic Review
Difficulties in Kinship Analysis in Armed Conflicts
Regarding human identification in armed conflicts, various complications can be observed. Usually, such difficulties can be social-related, which can include the lack of access to the relative’s genetic material, or the unwillingness of administrative and judicial authorities to participate in the process of identification. In the case of genetics, the analysis allows identifying the individual from a blood sample, a part of an organ, or from skeletal remains, which is why it is considered a much more extensive and effective method when compared with fingerprint techniques or odontology. However, several factors can prevent this identification, such as considerably degraded genetic material. For successful identification, it is mandatory to have access to antemortem biological samples unequivocally attributed to the individual in question, using recombinant nuclear markers, as well as using biological samples from close relatives, whether parents or sons. Nevertheless, the problems associated with armed conflicts make this type of study very difficult.
  • 931
  • 05 Jun 2023
Topic Review
Gitelman Syndrome
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
  • 930
  • 23 Dec 2020
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